List of variants reported as likely pathogenic for Phenylketonuria by Genome-Nilou Lab

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.688G>A (p.Val230Ile)	rs62516152	0.00029
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)	rs199475598	0.00023
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)	rs773526027	0.00002
NM_000277.3(PAH):c.505C>T (p.Arg169Cys)	rs281865440	0.00001
NM_000277.3(PAH):c.305T>C (p.Ile102Thr)	rs62508591
NM_000277.3(PAH):c.620A>G (p.Asn207Ser)	rs62508721

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